Widespread intron retention impairs protein homeostasis in C9orf72 ALS brains

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Figure 4.
Figure 4.

Introns that are significantly more retained in C9high patient samples are enriched in hnRNPH-associated intronic splicing enhancer motif activities. (A) Cumulative distribution function plot showing the fraction of introns with at least one NGGG + N motif at the designated intronic position (bp) downstream from the 5′ splice site (x-axis showing a total of 0–100 bp downstream from the 5′ splice site) for six groups of introns. (B) Cumulative distribution function plot showing the fraction of introns with at least one NGGG + N motif of four and more Gs in the poly(G) tract at the designated intronic position (bp) downstream from the 5′ splice site for six groups of introns. (C) Cumulative distribution function plot showing the fraction of introns with at least four non-overlapping NGGG + N motifs at the designated intronic position (bp) downstream from the 5′ splice site for six groups of introns.

This Article

  1. Genome Res. 30: 1705-1715

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